Full data view for gene ABAT

Information The variants shown are described using the NM_020686.5 transcript reference sequence.

158 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-39T>C r.(=) p.(=) g.8829558T>C Copied from the Exome Variant Server ABAT_000001 1/12984 0/8594 1/4390 - - - - - - -
?/? c.-30G>A r.(=) p.(=) g.8829567G>A Copied from the Exome Variant Server ABAT_000002 1/12986 0/8596 1/4390 - - - - - - -
?/? c.19G>A r.(?) p.(Ala7Thr) g.8829615G>A Copied from the Exome Variant Server ABAT_000003 1/12994 0/8600 1/4394 - - - - - - -
?/? c.25C>T r.(?) p.(Arg9Cys) g.8829621C>T Copied from the Exome Variant Server ABAT_000004 2/12994 2/8600 0/4394 - - - - - - -
?/? c.30G>A r.(=) p.(=) g.8829626G>A Copied from the Exome Variant Server ABAT_000005 35/12994 33/8600 2/4394 - - - - - - -
?/? c.44A>T r.(?) p.(Gln15Leu) g.8829640A>T Copied from the Exome Variant Server ABAT_000006 3/12992 0/8600 3/4392 - - - - - - -
?/? c.45G>A r.(=) p.(=) g.8829641G>A Copied from the Exome Variant Server ABAT_000007 1/12994 0/8600 1/4394 - - - - - - -
?/? c.55C>T r.(?) p.(Arg19Cys) g.8829651C>T Copied from the Exome Variant Server ABAT_000008 49/12994 0/8600 49/4394 - - - - - - -
?/? c.70+6C>A r.(=) p.(=) g.8829672C>A Copied from the Exome Variant Server ABAT_000009 1/12992 0/8598 1/4394 - - - - - - -
?/? c.70+9C>T r.(=) p.(=) g.8829675C>T Copied from the Exome Variant Server ABAT_000010 2/12992 1/8598 1/4394 - - - - - - -
?/? c.70+49T>C r.(=) p.(=) g.8829715T>C Copied from the Exome Variant Server ABAT_000011 4520/12978 2753/8588 1767/4390 - - - - - - -
?/? c.71-28G>A r.(=) p.(=) g.8839830G>A Copied from the Exome Variant Server ABAT_000012 1/12994 0/8600 1/4394 - - - - - - -
?/? c.71-14del r.(=) p.(=) g.8839844del Copied from the Exome Variant Server ABAT_000013 6/12518 4/8254 2/4264 - - - - - - -
?/? c.71-10T>C r.(=) p.(=) g.8839848T>C Copied from the Exome Variant Server ABAT_000014 2/12994 0/8600 2/4394 - - - - - - -
?/? c.109G>A r.(?) p.(Val37Ile) g.8839896G>A Copied from the Exome Variant Server ABAT_000015 6/12994 0/8600 6/4394 - - - - - - -
?/? c.110T>C r.(?) p.(Val37Ala) g.8839897T>C Copied from the Exome Variant Server ABAT_000016 1/12994 1/8600 0/4394 - - - - - - -
?/? c.129G>A r.(=) p.(=) g.8839916G>A Copied from the Exome Variant Server ABAT_000017 433/12994 3/8600 430/4394 - - - - - - -
?/? c.167A>G r.(?) p.(Gln56Arg) g.8839954A>G Copied from the Exome Variant Server ABAT_000018 6679/12994 5182/8600 1497/4394 - - - - - - -
?/? c.168+12A>G r.(=) p.(=) g.8839967A>G Copied from the Exome Variant Server ABAT_000019 58/12994 54/8600 4/4394 - - - - - - -
?/? c.168+37A>C r.(=) p.(=) g.8839992A>C Copied from the Exome Variant Server ABAT_000020 6/12994 0/8600 6/4394 - - - - - - -
?/? c.168+49G>A r.(=) p.(=) g.8840004G>A Copied from the Exome Variant Server ABAT_000021 1/12994 0/8600 1/4394 - - - - - - -
?/? c.169-78G>A r.(=) p.(=) g.8841887G>A Copied from the Exome Variant Server ABAT_000022 114/4566 25/3182 89/1384 - - - - - - -
?/? c.169-70A>T r.(=) p.(=) g.8841895A>T Copied from the Exome Variant Server ABAT_000023 4/4566 3/3182 1/1384 - - - - - - -
?/? c.169-54T>C r.(=) p.(=) g.8841911T>C Copied from the Exome Variant Server ABAT_000024 2/4566 0/3182 2/1384 - - - - - - -
?/? c.169-5T>C r.spl? p.? g.8841960T>C Copied from the Exome Variant Server ABAT_000025 6182/12994 5135/8600 1047/4394 - - - - - - -
?/? c.198+83T>C r.(=) p.(=) g.8842077T>C Copied from the Exome Variant Server ABAT_000026 1/4566 1/3182 0/1384 - - - - - - -
?/? c.199-41G>C r.(=) p.(=) g.8844238G>C Copied from the Exome Variant Server ABAT_000027 1/12994 0/8600 1/4394 - - - - - - -
?/? c.235G>A r.(?) p.(Glu79Lys) g.8844315G>A Copied from the Exome Variant Server ABAT_000028 1/12994 1/8600 0/4394 - - - - - - -
?/? c.267C>T r.(=) p.(=) g.8844347C>T Copied from the Exome Variant Server ABAT_000029 3/12994 3/8600 0/4394 - - - - - - -
?/? c.303C>T r.(=) p.(=) g.8844383C>T Copied from the Exome Variant Server ABAT_000030 2/12994 0/8600 2/4394 - - - - - - -
?/? c.309C>T r.(=) p.(=) g.8844389C>T Copied from the Exome Variant Server ABAT_000031 1168/12994 968/8600 200/4394 - - - - - - -
?/? c.316+29A>G r.(=) p.(=) g.8844425A>G Copied from the Exome Variant Server ABAT_000032 5/12994 0/8600 5/4394 - - - - - - -
?/? c.316+51C>T r.(=) p.(=) g.8844447C>T Copied from the Exome Variant Server ABAT_000033 2/12994 0/8600 2/4394 - - - - - - -
?/? c.330C>T r.(=) p.(=) g.8851627C>T Copied from the Exome Variant Server ABAT_000034 2/12994 2/8600 0/4394 - - - - - - -
?/? c.331G>A r.(?) p.(Ala111Thr) g.8851628G>A Copied from the Exome Variant Server ABAT_000035 1/12994 1/8600 0/4394 - - - - - - -
?/? c.366+10G>A r.(=) p.(=) g.8851673G>A Copied from the Exome Variant Server ABAT_000036 11/12994 0/8600 11/4394 - - - - - - -
?/? c.366+11G>T r.(=) p.(=) g.8851674G>T Copied from the Exome Variant Server ABAT_000037 55/12994 1/8600 54/4394 - - - - - - -
?/? c.367-46G>T r.(=) p.(=) g.8857880G>T Copied from the Exome Variant Server ABAT_000038 66/12994 0/8600 66/4394 - - - - - - -
?/? c.367-11C>A r.(=) p.(=) g.8857915C>A Copied from the Exome Variant Server ABAT_000039 1/12994 1/8600 0/4394 - - - - - - -
?/? c.367-3C>T r.spl? p.? g.8857923C>T Copied from the Exome Variant Server ABAT_000040 1/12994 0/8600 1/4394 - - - - - - -
?/? c.370A>G r.(?) p.(Met124Val) g.8857929A>G Copied from the Exome Variant Server ABAT_000041 1/12994 0/8600 1/4394 - - - - - - -
?/? c.393C>T r.(=) p.(=) g.8857952C>T Copied from the Exome Variant Server ABAT_000042 4/12994 4/8600 0/4394 - - - - - - -
?/? c.408G>A r.(=) p.(=) g.8857967G>A Copied from the Exome Variant Server ABAT_000043 1/12994 1/8600 0/4394 - - - - - - -
?/? c.446C>T r.(?) p.(Ser149Leu) g.8858005C>T Copied from the Exome Variant Server ABAT_000044 1/12994 1/8600 0/4394 - - - - - - -
?/? c.447G>T r.(=) p.(=) g.8858006G>T Copied from the Exome Variant Server ABAT_000045 1/12994 1/8600 0/4394 - - - - - - -
?/? c.447+6T>A r.(=) p.(=) g.8858012T>A Copied from the Exome Variant Server ABAT_000046 1/12994 1/8600 0/4394 - - - - - - -
?/? c.447+13G>A r.(=) p.(=) g.8858019G>A Copied from the Exome Variant Server ABAT_000047 1/12994 1/8600 0/4394 - - - - - - -
?/? c.447+17C>T r.(=) p.(=) g.8858023C>T Copied from the Exome Variant Server ABAT_000048 2/12994 0/8600 2/4394 - - - - - - -
?/? c.447+37G>A r.(=) p.(=) g.8858043G>A Copied from the Exome Variant Server ABAT_000049 4/12994 0/8600 4/4394 - - - - - - -
?/? c.448-55C>T r.(=) p.(=) g.8858540C>T Copied from the Exome Variant Server ABAT_000050 19/4566 0/3182 19/1384 - - - - - - -
?/? c.448-25C>A r.(=) p.(=) g.8858570C>A Copied from the Exome Variant Server ABAT_000051 1/12994 1/8600 0/4394 - - - - - - -
?/? c.448-20G>A r.(=) p.(=) g.8858575G>A Copied from the Exome Variant Server ABAT_000052 7/12994 0/8600 7/4394 - - - - - - -
?/? c.448-19G>A r.(=) p.(=) g.8858576G>A Copied from the Exome Variant Server ABAT_000053 1/12994 1/8600 0/4394 - - - - - - -
?/? c.448-15T>A r.(=) p.(=) g.8858580T>A Copied from the Exome Variant Server ABAT_000054 11162/12994 7943/8600 3219/4394 - - - - - - -
?/? c.448-5C>A r.spl? p.? g.8858590C>A Copied from the Exome Variant Server ABAT_000055 1/12994 1/8600 0/4394 - - - - - - -
?/? c.489C>T r.(=) p.(=) g.8858636C>T Copied from the Exome Variant Server ABAT_000056 3/12994 3/8600 0/4394 - - - - - - -
?/? c.497G>C r.(?) p.(Cys166Ser) g.8858644G>C Copied from the Exome Variant Server ABAT_000057 1/12994 1/8600 0/4394 - - - - - - -
?/? c.510C>T r.(=) p.(=) g.8858657C>T Copied from the Exome Variant Server ABAT_000058 2/12994 0/8600 2/4394 - - - - - - -
?/? c.540+40C>T r.(=) p.(=) g.8858727C>T Copied from the Exome Variant Server ABAT_000059 654/12994 7/8600 647/4394 - - - - - - -
?/? c.541-68G>C r.(=) p.(=) g.8859997G>C Copied from the Exome Variant Server ABAT_000060 258/4566 237/3182 21/1384 - - - - - - -
?/? c.541-52C>A r.(=) p.(=) g.8860013C>A Copied from the Exome Variant Server ABAT_000061 1/10300 0/7164 1/3136 - - - - - - -
?/? c.541-48G>A r.(=) p.(=) g.8860017G>A Copied from the Exome Variant Server ABAT_000062 1/12994 0/8600 1/4394 - - - - - - -
?/? c.541-45T>G r.(=) p.(=) g.8860020T>G Copied from the Exome Variant Server ABAT_000063 1/12994 1/8600 0/4394 - - - - - - -
?/? c.543C>G r.(?) p.(Ser181Arg) g.8860067C>G Copied from the Exome Variant Server ABAT_000064 1/12994 1/8600 0/4394 - - - - - - -
?/? c.555G>A r.(=) p.(=) g.8860079G>A Copied from the Exome Variant Server ABAT_000065 1/12994 0/8600 1/4394 - - - - - - -
?/? c.561G>C r.(?) p.(Arg187Ser) g.8860085G>C Copied from the Exome Variant Server ABAT_000066 1/12994 1/8600 0/4394 - - - - - - -
?/? c.603+3G>A r.spl? p.? g.8860130G>A Copied from the Exome Variant Server ABAT_000067 130/12994 77/8600 53/4394 - - - - - - -
?/? c.603+25C>T r.(=) p.(=) g.8860152C>T Copied from the Exome Variant Server ABAT_000068 1/12994 1/8600 0/4394 - - - - - - -
?/? c.603+26G>A r.(=) p.(=) g.8860153G>A Copied from the Exome Variant Server ABAT_000069 74/12994 0/8600 74/4394 - - - - - - -
?/? c.603+36G>T r.(=) p.(=) g.8860163G>T Copied from the Exome Variant Server ABAT_000070 1/12994 0/8600 1/4394 - - - - - - -
?/? c.603+65_603+68del r.(=) p.(=) g.8860192_8860195del Copied from the Exome Variant Server ABAT_000071 7/12512 5/8250 2/4262 - - - - - - -
?/? c.604-67C>T r.(=) p.(=) g.8861983C>T Copied from the Exome Variant Server ABAT_000072 1/4566 0/3182 1/1384 - - - - - - -
?/? c.604-46C>A r.(=) p.(=) g.8862004C>A Copied from the Exome Variant Server ABAT_000073 1/12994 1/8600 0/4394 - - - - - - -
?/? c.604-45C>T r.(=) p.(=) g.8862005C>T Copied from the Exome Variant Server ABAT_000074 1/12994 0/8600 1/4394 - - - - - - -
?/? c.604-35A>G r.(=) p.(=) g.8862015A>G Copied from the Exome Variant Server ABAT_000075 1/12994 1/8600 0/4394 - - - - - - -
?/? c.618C>T r.(=) p.(=) g.8862064C>T Copied from the Exome Variant Server ABAT_000076 1/12994 1/8600 0/4394 - - - - - - -
?/? c.641T>C r.(?) p.(Met214Thr) g.8862087T>C Copied from the Exome Variant Server ABAT_000077 33/12994 31/8600 2/4394 - - - - - - -
?/? c.667+20C>T r.(=) p.(=) g.8862133C>T Copied from the Exome Variant Server ABAT_000078 1/12994 0/8600 1/4394 - - - - - - -
?/? c.667+33G>A r.(=) p.(=) g.8862146G>A Copied from the Exome Variant Server ABAT_000079 1/12994 0/8600 1/4394 - - - - - - -
?/? c.667+39A>G r.(=) p.(=) g.8862152A>G Copied from the Exome Variant Server ABAT_000080 1/12994 0/8600 1/4394 - - - - - - -
?/? c.668-39C>T r.(=) p.(=) g.8862643C>T Copied from the Exome Variant Server ABAT_000081 8/12994 0/8600 8/4394 - - - - - - -
?/? c.668-38C>G r.(=) p.(=) g.8862644C>G Copied from the Exome Variant Server ABAT_000082 104/12994 1/8600 103/4394 - - - - - - -
?/? c.668-29C>T r.(=) p.(=) g.8862653C>T Copied from the Exome Variant Server ABAT_000083 23/12994 1/8600 22/4394 - - - - - - -
?/? c.668-3C>T r.spl? p.? g.8862679C>T Copied from the Exome Variant Server ABAT_000084 1/12994 1/8600 0/4394 - - - - - - -
?/? c.668-2A>G r.spl? p.? g.8862680A>G Copied from the Exome Variant Server ABAT_000085 1/12994 0/8600 1/4394 - - - - - - -
?/? c.677C>T r.(?) p.(Ala226Val) g.8862691C>T Copied from the Exome Variant Server ABAT_000086 1/12994 0/8600 1/4394 - - - - - - -
?/? c.684G>A r.(=) p.(=) g.8862698G>A Copied from the Exome Variant Server ABAT_000087 10/12994 5/8600 5/4394 - - - - - - -
?/? c.712A>G r.(?) p.(Ile238Val) g.8862726A>G Copied from the Exome Variant Server ABAT_000088 1/12994 1/8600 0/4394 - - - - - - -
?/? c.735C>T r.(=) p.(=) g.8862749C>T Copied from the Exome Variant Server ABAT_000089 2/12994 0/8600 2/4394 - - - - - - -
?/? c.741G>A r.(=) p.(=) g.8862755G>A Copied from the Exome Variant Server ABAT_000090 1/12994 1/8600 0/4394 - - - - - - -
?/? c.749G>T r.(?) p.(Arg250Leu) g.8862763G>T Copied from the Exome Variant Server ABAT_000091 1/12994 1/8600 0/4394 - - - - - - -
?/? c.766G>C r.(?) p.(Glu256Gln) g.8862780G>C Copied from the Exome Variant Server ABAT_000092 1/12994 1/8600 0/4394 - - - - - - -
?/? c.771G>C r.(?) p.(Glu257Asp) g.8862785G>C Copied from the Exome Variant Server ABAT_000093 1/12994 1/8600 0/4394 - - - - - - -
?/? c.816+7C>A r.(=) p.(=) g.8862837C>A Copied from the Exome Variant Server ABAT_000094 42/12994 0/8600 42/4394 - - - - - - -
?/? c.816+19G>A r.(=) p.(=) g.8862849G>A Copied from the Exome Variant Server ABAT_000096 1/12994 1/8600 0/4394 - - - - - - -
?/? c.816+31A>G r.(=) p.(=) g.8862861A>G Copied from the Exome Variant Server ABAT_000098 1/12994 1/8600 0/4394 - - - - - - -
?/? c.817-39C>T r.(=) p.(=) g.8866598C>T Copied from the Exome Variant Server ABAT_000095 1/12994 0/8600 1/4394 - - - - - - -
?/? c.817-28G>A r.(=) p.(=) g.8866609G>A Copied from the Exome Variant Server ABAT_000097 3/12994 3/8600 0/4394 - - - - - - -
?/? c.817-6A>G r.(=) p.(=) g.8866631A>G Copied from the Exome Variant Server ABAT_000099 44/12994 0/8600 44/4394 - - - - - - -
?/? c.817-4C>T r.spl? p.? g.8866633C>T Copied from the Exome Variant Server ABAT_000100 1/12994 1/8600 0/4394 - - - - - - -
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